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Noncoding deletions reveal a gene that is critical for intestinal function

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Noncoding deletions reveal a gene that is critical for intestinal function

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_osti_scitechconnect_1594926

Noncoding deletions reveal a gene that is critical for intestinal function

About this item

Full title

Noncoding deletions reveal a gene that is critical for intestinal function

Author / Creator

Oz-Levi, Danit , Olender, Tsviya , Bar-Joseph, Ifat , Zhu, Yiwen , Marek-Yagel, Dina , Barozzi, Iros , Osterwalder, Marco , Alkelai, Anna , Ruzzo, Elizabeth K. , Han, Yujun , Vos, Erica S. M. , Reznik-Wolf, Haike , Hartman, Corina , Shamir, Raanan , Weiss, Batia , Shapiro, Rivka , Pode-Shakked, Ben , Tatarskyy, Pavlo , Milgrom, Roni , Schvimer, Michael , Barshack, Iris , Imai, Denise M. , Coleman-Derr, Devin , Dickel, Diane E. , Nord, Alex S. , Afzal, Veena , van Bueren, Kelly Lammerts , Barnes, Ralston M. , Black, Brian L. , Mayhew, Christopher N. , Kuhar, Matthew F. , Pitstick, Amy , Tekman, Mehmet , Stanescu, Horia C. , Wells, James M. , Kleta, Robert , de Laat, Wouter , Goldstein, David B. , Pras, Elon , Visel, Axel , Lancet, Doron , Anikster, Yair , Pennacchio, Len A. and Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States)

Publisher

London: Nature Publishing Group UK

Journal title

Nature (London), 2019-07, Vol.571 (7763), p.107-111

Language

English

Formats

Articles

Publication information

Publisher

London: Nature Publishing Group UK

Subjects

Subjects and topics

More information

Scope and Contents

Contents

Large-scale genome sequencing is poised to provide a substantial increase in the rate of discovery of disease-associated mutations, but the functional interpretation of such mutations remains challenging. Here we show that deletions of a sequence on human chromosome 16 that we term the intestine-critical region (ICR) cause intractable congenital di...

Alternative Titles

Full title

Noncoding deletions reveal a gene that is critical for intestinal function

Authors, Artists and Contributors

Author / Creator

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_osti_scitechconnect_1594926

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_osti_scitechconnect_1594926

Other Identifiers

ISSN

0028-0836

E-ISSN

1476-4687

DOI

10.1038/s41586-019-1312-2

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